Abstract
BackgroundWith the availability of raw DNA generated from direct‐to‐consumer (DTC) testing companies, there has been a proliferation of third‐party online services that are available to interpret the raw data for both genealogy and/or health purposes. This study examines the current landscape and downstream clinical implications of consumer use of third‐party services.MethodsStudy participants were recruited online from social media platforms. A total of 321 survey respondents reported using third‐party services for raw DNA interpretation.ResultsParticipants were highly motivated to explore raw DNA for ancestral information (67%), individual health implications (62%), or both (40%). Participants primarily used one of seven companies to interpret raw DNA; 73% used more than one. Company choice was driven by the type of results offered (51%), price (45%), and online reviews (31%). Approximately 30% of participants shared results with a medical provider and 21% shared with more than one. Outcomes of sharing ranged from disinterest/discounting of the information to diagnosis of genetic conditions. Participants were highly satisfied with their decision to analyze raw DNA (M = 4.54/5), yet challenges in understanding interpretation results were reported irrespective of satisfaction ratings.ConclusionConsumers face challenges in understanding the results and may seek out clinical assistance in interpreting their raw DNA results.
Highlights
The landscape of direct-to-consumer (DTC) genomics is continuously evolving
Following the cease and desist letter from the Food and Drug Administration (FDA) to 23andMe in late 2013, which ordered the company to discontinue marketing of the Personal Genome Service (PGS) and led to the 23andMe’s decision to remove health information in their genetic reports, consumers who were interested in health information could seek out third-party online sites to fulfill this need
This study reflects the first attempt to our knowledge to assess the landscape of consumer use of third-party services to interpret raw DNA
Summary
The landscape of direct-to-consumer (DTC) genomics is continuously evolving. Several companies offer DTC ancestry testing for genealogy purposes, including Family Tree DNA, AncestryDNA, and 23andMe (Kirkpatrick & Rashkin, 2017). Raw DNA data files are available from these and other companies that can be transferred to third-party online sites for further interpretation, including interpretation for health purposes (Bettinger, 2013; 23andyou.com). Following the cease and desist letter from the Food and Drug Administration (FDA) to 23andMe in late 2013, which ordered the company to discontinue marketing of the Personal Genome Service (PGS) and led to the 23andMe’s decision to remove health information in their genetic reports, consumers who were interested in health information could seek out third-party online sites to fulfill this need. Consumer use of third-party DNA interpretation services will likely continue to grow, with national precision medicine initiatives such as the All of Us Research Program, in which cohort participants are anticipated to have access to their genome sequence data for personal use (Collins & Varmus, 2015; National Institutes of Health, 2017). This study set out to examine the current raw DNA interpretation landscape, assess the impact of these services on consumers, and consider the downstream implications of these services on the health care system
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